Table 1.
The most common homoplasmic mtDNA variants in the observed sample.
| mtDNA variant | Gene/region | Character of mutationa | % of cases |
||
|---|---|---|---|---|---|
| General | Controls | Atherosclerotic patients | |||
| m.73A>G | Noncoding | – | 51.5 | 51.6 | 51.4 |
| m.146T>C | Noncoding | – | 7.4 | 6.5 | 8.1 |
| m.152T>C | Noncoding | – | 14.7 | 19.4 | 10.8 |
| m.185G>A | Noncoding | – | 5.9 | 6.5 | 5.4 |
| m.195T>C | Noncoding | – | 14.7 | 22.6 | 8.1 |
| m.204T>C | Noncoding | – | 5.9 | 3.2 | 8.1 |
| m.228G>A | Noncoding | – | 5.9 | 3.2 | 8.1 |
| m.263A>G | Noncoding | – | 91.2 | 87.1 | 94.6 |
| m.489T>C | Noncoding | – | 7.4 | 6.5 | 8.1 |
| m.709G>A | RNR1 | – | 14.7 | 19.4 | 10.8 |
| m.750A>G | RNR1 | – | 86.8 | 83.9 | 89.2 |
| m.930G>A | RNR1 | – | 7.4 | 6.5 | 8.1 |
| m.1438A>G | RNR1 | – | 83.8 | 83.9 | 83.8 |
| m.1719G>A | RNR2 | – | 5.9 | 0.0 | 10.8 |
| m.1811A>G | RNR2 | – | 13.2 | 12.9 | 13.5 |
| m.1888G>A | RNR2 | – | 11.8 | 12.9 | 10.8 |
| m.2706A>G | RNR2 | – | 50.0 | 45.2 | 54.1 |
| m.3010G>A | RNR2 | – | 20.6 | 16.1 | 24.3 |
| m.3107delN | RNR2 | – | 89.7 | 83.9 | 94.6 |
| m.4216T>C | ND1 | m | 20.6 | 22.6 | 18.9 |
| m.4769A>G | ND2 | s | 85.3 | 77.4 | 91.9 |
| m.4917A>G | ND2 | m | 14.7 | 16.1 | 13.5 |
| m.5147G>A | ND2 | s | 8.8 | 9.7 | 8.1 |
| m.7028C>T | COX1 | s | 48.5 | 48.4 | 48.6 |
| m.8251G>A | COX2 | s | 7.4 | 3.2 | 10.8 |
| m.8697G>A | ATP6 | s | 13.2 | 16.1 | 10.8 |
| m.8860A>G | ATP6 | m | 92.6 | 90.3 | 94.6 |
| m.10398A>G | ND3 | m | 16.2 | 19.4 | 13.5 |
| m.10463T>C | TRNR | – | 14.7 | 16.1 | 13.5 |
| m.11251A>G | ND4 | s | 19.1 | 22.6 | 16.2 |
| m.11467A>G | ND4 | s | 19.1 | 19.4 | 18.9 |
| m.11719G>A | ND4 | s | 50.0 | 51.6 | 48.6 |
| m.11812A>G | ND4 | s | 10.3 | 9.7 | 10.8 |
| m.12308A>G | TRNL2 | – | 20.6 | 22.6 | 18.9 |
| m.12372G>A | ND5 | s | 20.6 | 22.6 | 18.9 |
| m.12612A>G | ND5 | s | 8.8 | 9.7 | 8.1 |
| m.12705C>T | ND5 | s | 5.9 | 3.2 | 8.1 |
| m.13368G>A | ND5 | s | 14.7 | 16.1 | 13.5 |
| m.13708G>A | ND5 | m | 11.8 | 16.1 | 8.1 |
| m.14233A>G | ND6 | s | 11.8 | 9.7 | 13.5 |
| m.14766C>T | CYTB | m | 45.6 | 48.4 | 43.2 |
| m.14798T>C | CYTB | m | 8.8 | 12.9 | 5.4 |
| m.14905G>A | CYTB | s | 14.7 | 16.1 | 13.5 |
| m.15326A>G | CYTB | m | 89.7 | 87.1 | 91.9 |
| m.15452C>A | CYTB | m | 22.1 | 25.8 | 18.9 |
| m.15607A>G | CYTB | s | 11.8 | 12.9 | 10.8 |
| m.15784T>C | CYTB | s | 4.4 | 9.7 | 0.0 |
| m.15928G>A | TRNT | – | 11.8 | 12.9 | 10.8 |
| m.16069C>T | Noncoding | – | 10.3 | 12.9 | 8.1 |
| m.16126T>C | Noncoding | – | 23.5 | 29.0 | 18.9 |
| m.16145G>A | Noncoding | – | 5.9 | 6.5 | 5.4 |
| m.16223C>T | Noncoding | – | 7.4 | 3.2 | 10.8 |
| m.16256C>T | Noncoding | – | 7.4 | 12.9 | 2.7 |
| m.16294C>T | Noncoding | – | 14.7 | 19.4 | 10.8 |
| m.16296C>T | Noncoding | – | 8.8 | 9.7 | 8.1 |
| m.16304T>C | Noncoding | – | 11.8 | 9.7 | 13.5 |
| m.16311T>C | Noncoding | – | 10.3 | 6.5 | 13.5 |
| m.16519T>C | Noncoding | – | 51.5 | 51.6 | 51.4 |
a
For mutations in protein coding genes: m – missense, s – synonymous.